Canonical Allele Identifier: CA624855904

Gene: CHRNE

Linked Data

• dbSNP Id: rs1354299119
• gnomAD v2: 17-4802706-C-T
• gnomAD v4: 17-4899411-C-T
• MyVariant Identifiers: chr17:g.4802706C>T (hg19) ; chr17:g.4899411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899411C>T , CM000679.2:g.4899411C>T	GRCh38
NC_000017.10:g.4802706C>T , CM000679.1:g.4802706C>T	GRCh37
NC_000017.9:g.4743485C>T	NCBI36
NG_008029.2:g.8665G>A
NG_028005.1:g.71072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1033-27G>A MANE Select	ENSP00000497829.1:n.1033-27G>A
ENST00000649830.1:c.100-27G>A	ENSP00000496907.1:n.100-27G>A
ENST00000652550.1:n.763-27G>A
ENST00000293780.4:c.1033-27G>A	ENSP00000293780.4:n.1033-27G>A
ENST00000572438.1:n.719-27G>A
NM_000080.3:c.1033-27G>A	NP_000071.1:n.1033-27G>A
NM_000080.4:c.1033-27G>A MANE Select	NP_000071.1:n.1033-27G>A
XM_017024115.1:c.997-27G>A	XP_016879604.1:n.997-27G>A
XR_001752421.1:n.1763-27G>A